TRPM3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1710649	NM_001366145.2(TRPM3):c.3556G>A (p.Glu1186Lys)	TRPM3 (E1011K +12 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3183323	NM_001366145.2(TRPM3):c.3551C>T (p.Pro1184Leu)	TRPM3 (P1172L +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497710	NM_001366145.2(TRPM3):c.3541G>A (p.Glu1181Lys)	TRPM3 (E1006K +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2212062	NM_001366145.2(TRPM3):c.3527G>A (p.Arg1176Gln)	TRPM3 (R1013Q +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412979	NM_001366145.2(TRPM3):c.3431A>G (p.Tyr1144Cys)	TRPM3 (Y1004C +12 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1516729	NM_001366145.2(TRPM3):c.3428G>A (p.Arg1143Lys)	TRPM3 (R1121K +12 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2580894	NM_001366145.2(TRPM3):c.3397T>C (p.Ser1133Pro)	TRPM3 (S1111P +12 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1193351	NM_001366145.2(TRPM3):c.3376A>G (p.Asn1126Asp)	TRPM3 (N1104D +12 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2576847	NM_001366145.2(TRPM3):c.3370T>G (p.Phe1124Val)	TRPM3 (F1102V +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049707	NM_001366145.2(TRPM3):c.3306G>A (p.Pro1102=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related disorder	GBenign
Select item 625153	NM_001366145.2(TRPM3):c.3305C>A (p.Pro1102Gln)	TRPM3 (P1102Q +12 more)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GUncertain significance
Select item 2621095	NM_001366145.2(TRPM3):c.3284A>G (p.Lys1095Arg)	TRPM3 (K1073R +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699066	NM_001366145.2(TRPM3):c.3245C>A (p.Thr1082Asn)	TRPM3 (T1060N +12 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely benign
Select item 3183322	NM_001366145.2(TRPM3):c.3226C>T (p.Pro1076Ser)	TRPM3 (P1054S +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048099	NM_001366145.2(TRPM3):c.3224-8C>A	TRPM3	Single nucleotide variant (intron variant)	TRPM3-related disorder	GLikely benign
Select item 1805837	NM_001366145.2(TRPM3):c.3223+1G>A	TRPM3	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3183321	NM_001366145.2(TRPM3):c.3218T>C (p.Ile1073Thr)	TRPM3 (I1061T +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033168	NM_001366145.2(TRPM3):c.3210G>A (p.Ala1070=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related disorder	GBenign
Select item 1803521	NM_001366145.2(TRPM3):c.3175A>G (p.Met1059Val)	TRPM3 (M1037V +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3044953	NM_001366145.2(TRPM3):c.3156G>A (p.Leu1052=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related disorder	GBenign
Select item 3183320	NM_001366145.2(TRPM3):c.3109G>A (p.Ala1037Thr)	TRPM3 (A1062T +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788301	NM_001366145.2(TRPM3):c.3024G>A (p.Pro1008=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related disorder +1 more	GBenign/Likely benign
Select item 585073	NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)	TRPM3 (V837M +12 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 3043850	NM_001366145.2(TRPM3):c.2997C>T (p.Ile999=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related disorder	GBenign
Select item 1335728	NM_001366145.2(TRPM3):c.2956T>A (p.Cys986Ser)	TRPM3 (C1001S +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580046	NM_001366145.2(TRPM3):c.2941G>T (p.Gly981Trp)	TRPM3 (G1006W +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3183318	NM_001366145.2(TRPM3):c.2878G>A (p.Ala960Thr)	TRPM3 (A785T +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707971	NM_001366145.2(TRPM3):c.2875A>G (p.Ile959Val)	TRPM3 (I784V +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312224	NM_001366145.2(TRPM3):c.2867C>T (p.Thr956Met)	TRPM3 (T781M +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 161741	NM_001366145.2(TRPM3):c.2815G>A (p.Gly939Arg)	TRPM3 (G774R +12 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2313019	NM_001366145.2(TRPM3):c.2725C>T (p.Arg909Cys)	TRPM3 (R909C +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040555	NM_001366145.2(TRPM3):c.2703T>C (p.Tyr901=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related disorder	GLikely benign
Select item 1800941	NM_001366145.2(TRPM3):c.2702A>G (p.Tyr901Cys)	TRPM3 (Y726C +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3037780	NM_001366145.2(TRPM3):c.2673G>A (p.Ala891=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related disorder	GBenign
Select item 3010448	NM_001366145.2(TRPM3):c.2647G>T (p.Val883Leu)	TRPM3 (V720L +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3183317	NM_001366145.2(TRPM3):c.2611G>A (p.Gly871Ser)	TRPM3 (G859S +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405343	NM_001366145.2(TRPM3):c.2597G>A (p.Arg866Gln)	TRPM3 (R713Q +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574846	NM_001366145.2(TRPM3):c.2570A>T (p.Asp857Val)	TRPM3 (D682V +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659250	NM_001366145.2(TRPM3):c.2553G>C (p.Glu851Asp)	TRPM3 (E676D +12 more)	Single nucleotide variant (missense variant)	TRPM3-related disorder +1 more	GLikely benign
Select item 3057734	NM_001366145.2(TRPM3):c.2529A>T (p.Ala843=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related disorder	GLikely benign
Select item 2284358	NM_001366145.2(TRPM3):c.2527G>A (p.Ala843Thr)	TRPM3 (A678T +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045942	NM_001366145.2(TRPM3):c.2472A>G (p.Ala824=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related disorder	GLikely benign
Select item 3183316	NM_001366145.2(TRPM3):c.2315T>A (p.Met772Lys)	TRPM3 (M619K +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504535	NM_001366145.2(TRPM3):c.2298G>C (p.Gln766His)	TRPM3 (Q591H +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176569	NM_001366145.2(TRPM3):c.2280C>T (p.Ile760=)	TRPM3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2305477	NM_001366145.2(TRPM3):c.2270G>A (p.Arg757His)	TRPM3 (R594H +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051524	NM_001366145.2(TRPM3):c.2238G>A (p.Thr746=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related disorder	GLikely benign
Select item 1333407	NM_001366145.2(TRPM3):c.2234C>T (p.Ala745Val)	TRPM3 (A570V +12 more)	Single nucleotide variant (missense variant)	TRPM3 related neruodevelopmental disorder	GUncertain significance
Select item 2659251	NM_001366145.2(TRPM3):c.2208G>A (p.Thr736=)	TRPM3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2662668	NM_001366145.2(TRPM3):c.2176C>A (p.Gln726Lys)	TRPM3 (Q551K +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663879	NM_001366145.2(TRPM3):c.2132A>C (p.Asp711Ala)	TRPM3 (D536A +12 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	Gnot provided
Select item 3038861	NM_001366145.2(TRPM3):c.2129+8C>T	TRPM3	Single nucleotide variant (intron variant)	TRPM3-related disorder	GLikely benign
Select item 1308097	NM_001366145.2(TRPM3):c.2111A>G (p.Glu704Gly)	TRPM3 (E529G +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330999	NM_001366145.2(TRPM3):c.2030A>G (p.Lys677Arg)	TRPM3 (K502R +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2467177	NM_001366145.2(TRPM3):c.2011G>A (p.Gly671Ser)	TRPM3 (G506S +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1696635	NM_001366145.2(TRPM3):c.1976A>G (p.Lys659Arg)	TRPM3 (K484R +12 more)	Single nucleotide variant (missense variant)	TRPM3-associated epilepsy syndrome	GUncertain significance
Select item 3036867	NM_001366145.2(TRPM3):c.1941T>C (p.Pro647=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related disorder	GBenign
Select item 2294060	NM_001366145.2(TRPM3):c.1870A>G (p.Thr624Ala)	TRPM3 (T612A +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1390736	NM_001366145.2(TRPM3):c.1847T>C (p.Ile616Thr)	TRPM3 (I441T +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662256	NM_001366145.2(TRPM3):c.1802C>A (p.Pro601His)	TRPM3 (P436H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2244637	NM_001366145.2(TRPM3):c.1768C>G (p.Arg590Gly)	TRPM3 (R437G +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804234	NM_001366145.2(TRPM3):c.1766A>C (p.Lys589Thr)	TRPM3 (K424T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313381	NM_001366145.2(TRPM3):c.1741G>A (p.Ala581Thr)	TRPM3 (A416T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442614	NM_001366145.2(TRPM3):c.1735G>A (p.Gly579Ser)	TRPM3 (G414S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504980	NM_001366145.2(TRPM3):c.1711G>A (p.Gly571Ser)	TRPM3 (G406S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3059226	NM_001366145.2(TRPM3):c.1635A>C (p.Arg545=)	TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related disorder	GBenign
Select item 2662894	NM_001366145.2(TRPM3):c.1632+1del	TRPM3	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2633129	NM_001366145.2(TRPM3):c.1624G>A (p.Val542Ile)	TRPM3 (V389I +4 more)	Single nucleotide variant (missense variant)	TRPM3-related disorder	GUncertain significance
Select item 2558283	NM_001366145.2(TRPM3):c.1607A>G (p.Tyr536Cys)	TRPM3 (Y383C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699679	NM_001366145.2(TRPM3):c.1517T>C (p.Ile506Thr)	TRPM3 (I353T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235719	NM_001366145.2(TRPM3):c.1474G>A (p.Asp492Asn)	TRPM3 (D339N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3056256	NM_001366145.2(TRPM3):c.1368C>T (p.Asp456=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related disorder	GBenign
Select item 1697024	NM_001366145.2(TRPM3):c.1325T>A (p.Ile442Asn)	TRPM3 (I289N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342457	NM_001366145.2(TRPM3):c.1222G>A (p.Ala408Thr)	TRPM3 (A255T +4 more)	Single nucleotide variant (missense variant)	TRPM3-related Intellectual Disability and Epilepsy	GUncertain significance
Select item 1712066	NM_001366145.2(TRPM3):c.1183G>A (p.Val395Met)	TRPM3 (V242M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450278	NM_001366145.2(TRPM3):c.1130A>C (p.Lys377Thr)	TRPM3 (K224T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983336	NM_001366145.2(TRPM3):c.1106C>T (p.Ser369Leu)	TRPM3 (S216L +4 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 2506696	NM_001366145.2(TRPM3):c.1100G>A (p.Arg367Gln)	TRPM3 (R214Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662826	NM_001366145.2(TRPM3):c.1097G>C (p.Gly366Ala)	TRPM3 (G213A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2349691	NM_001366145.2(TRPM3):c.1069G>A (p.Val357Met)	TRPM3 (V359M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2576841	NM_001366145.2(TRPM3):c.1064C>G (p.Pro355Arg)	TRPM3 (P202R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2611253	NM_001366145.2(TRPM3):c.1043T>C (p.Leu348Ser)	TRPM3 (L220S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1311546	NM_001366145.2(TRPM3):c.988G>C (p.Val330Leu)	TRPM3 (V177L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633143	NM_001366145.2(TRPM3):c.985G>A (p.Gly329Ser)	TRPM3 (G176S +4 more)	Single nucleotide variant (missense variant)	TRPM3-related disorder	GUncertain significance
Select item 2573885	NM_001366145.2(TRPM3):c.974-5T>A	TRPM3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3038434	NM_001366145.2(TRPM3):c.973+16686A>G	TRPM3	Single nucleotide variant (intron variant)	TRPM3-related disorder	GBenign
Select item 3035366	NM_001366145.2(TRPM3):c.973+16631C>T	TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related disorder	GLikely benign
Select item 2571858	NM_001366145.2(TRPM3):c.913G>A (p.Ala305Thr)	TRPM3 (A152T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2237603	NM_001366145.2(TRPM3):c.893G>C (p.Gly298Ala)	TRPM3 (G145A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695563	NM_001366145.2(TRPM3):c.809G>A (p.Arg270Gln)	TRPM3 (R117Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700517	NM_001366145.2(TRPM3):c.772G>A (p.Glu258Lys)	TRPM3 (E105K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2284975	NM_001366145.2(TRPM3):c.767T>C (p.Ile256Thr)	TRPM3 (I103T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482039	NM_001366145.2(TRPM3):c.755C>G (p.Ala252Gly)	TRPM3 (A99G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048625	NM_001366145.2(TRPM3):c.753T>C (p.Ile251=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related disorder	GLikely benign
Select item 1208301	NM_001366145.2(TRPM3):c.689A>G (p.His230Arg)	TRPM3 (H230R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3183339	NM_001366145.2(TRPM3):c.686G>A (p.Arg229His)	TRPM3 (R229H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058898	NM_001366145.2(TRPM3):c.677-4_677-3dup	TRPM3	Duplication (intron variant)	TRPM3-related disorder	GBenign
Select item 1296969	NM_001366145.2(TRPM3):c.677-12dup	TRPM3	Duplication (intron variant)	not provided	GBenign
Select item 3035671	NM_001366145.2(TRPM3):c.677-8_677-7insC	TRPM3	Insertion (intron variant)	TRPM3-related disorder	GBenign
Select item 1228518	NM_001366145.2(TRPM3):c.633A>T (p.Ala211=)	TRPM3	Single nucleotide variant (synonymous variant)	not provided	GBenign

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